Linked Data
ClinVar Variation Id:
161820
ClinVar RCV Id:
RCV000149356
dbSNP Id:
rs193921064
ExAC:
2:28836970 C / A
gnomAD v2:
2-28836970-C-A
gnomAD v3:
2-28614103-C-A
gnomAD v4:
2-28614103-C-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28614103C>A , CM000664.2:g.28614103C>A | GRCh38 |
| NC_000002.11:g.28836970C>A , CM000664.1:g.28836970C>A | GRCh37 |
| NC_000002.10:g.28690474C>A | NCBI36 |
| NG_051297.1:g.130525C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327757.10:c.3195+7C>A MANE Select | ENSP00000330442.5:n.3195+7C>A | |
| ENST00000327757.9:c.3195+7C>A | ENSP00000330442.5:n.3195+7C>A | |
| ENST00000404858.5:c.3158+7C>A | ||
| ENST00000411743.5:c.285+7C>A | ||
| ENST00000422425.6:c.3162+7C>A | ENSP00000416440.2:n.3162+7C>A | |
| ENST00000444257.5:c.267+7C>A | ENSP00000391810.1:n.267+7C>A | |
| ENST00000479065.5:n.317+7C>A | ||
| NM_001170585.1:c.3162+7C>A | NP_001164056.1:n.3162+7C>A | |
| NM_153021.4:c.3195+7C>A | NP_694566.4:n.3195+7C>A | |
| XM_011532579.1:c.3255+7C>A | XP_011530881.1:n.3255+7C>A | |
| XM_011532580.1:c.3228+7C>A | XP_011530882.1:n.3228+7C>A | |
| XM_011532581.1:c.3222+7C>A | XP_011530883.1:n.3222+7C>A | |
| XM_011532582.1:c.3255+7C>A | XP_011530884.1:n.3255+7C>A | |
| XM_011532583.1:c.3255+7C>A | XP_011530885.1:n.3255+7C>A | |
| XM_011532584.1:c.3255+7C>A | XP_011530886.1:n.3255+7C>A | |
| XM_011532585.1:c.3255+7C>A | XP_011530887.1:n.3255+7C>A | |
| XM_011532586.1:c.3159+7C>A | XP_011530888.1:n.3159+7C>A | |
| XM_011532587.1:c.3255+7C>A | XP_011530889.1:n.3255+7C>A | |
| XM_011532588.1:c.3255+7C>A | XP_011530890.1:n.3255+7C>A | |
| XM_011532589.1:c.3255+7C>A | XP_011530891.1:n.3255+7C>A | |
| XM_011532590.1:c.3255+7C>A | XP_011530892.1:n.3255+7C>A | |
| XM_011532591.1:c.3255+7C>A | XP_011530893.1:n.3255+7C>A | |
| XM_011532592.1:c.3072+7C>A | XP_011530894.1:n.3072+7C>A | |
| XM_011532593.1:c.3075+7C>A | XP_011530895.1:n.3075+7C>A | |
| XM_011532594.1:c.3255+7C>A | XP_011530896.1:n.3255+7C>A | |
| XM_011532595.1:c.3255+7C>A | XP_011530897.1:n.3255+7C>A | |
| XM_011532596.1:c.3255+7C>A | XP_011530898.1:n.3255+7C>A | |
| XM_011532597.1:c.3255+7C>A | XP_011530899.1:n.3255+7C>A | |
| XM_011532598.1:c.3255+7C>A | XP_011530900.1:n.3255+7C>A | |
| XM_011532599.1:c.3255+7C>A | XP_011530901.1:n.3255+7C>A | |
| XM_011532600.1:c.2451+7C>A | XP_011530902.1:n.2451+7C>A | |
| XM_011532601.1:c.2310+7C>A | XP_011530903.1:n.2310+7C>A | |
| XM_011532602.1:c.2259+7C>A | XP_011530904.1:n.2259+7C>A | |
| XM_011532603.1:c.2259+7C>A | XP_011530905.1:n.2259+7C>A | |
| XM_011532605.1:c.2259+7C>A | XP_011530907.1:n.2259+7C>A | |
| XM_011532609.1:c.1491+7C>A | XP_011530911.1:n.1491+7C>A | |
| XM_011532610.1:c.1491+7C>A | XP_011530912.1:n.1491+7C>A | |
| XR_939661.1:n.3363+7C>A | ||
| XR_939662.1:n.3363+7C>A | ||
| XR_939663.1:n.3363+7C>A | ||
| XR_939664.1:n.3363+7C>A | ||
| XR_939665.1:n.3281+7C>A | ||
| XR_939666.1:n.3176+7C>A | ||
| XR_939667.1:n.3080+7C>A | ||
| NR_138141.1:n.2101+7C>A | ||
| XM_011532579.2:c.3255+7C>A | XP_011530881.1:n.3255+7C>A | |
| XM_011532581.3:c.3222+7C>A | XP_011530883.1:n.3222+7C>A | |
| XM_011532584.3:c.3255+7C>A | XP_011530886.1:n.3255+7C>A | |
| XM_011532588.2:c.3255+7C>A | XP_011530890.1:n.3255+7C>A | |
| XM_011532589.2:c.3255+7C>A | XP_011530891.1:n.3255+7C>A | |
| XM_011532590.2:c.3255+7C>A | XP_011530892.1:n.3255+7C>A | |
| XM_011532591.3:c.3255+7C>A | XP_011530893.1:n.3255+7C>A | |
| XM_011532593.2:c.3075+7C>A | XP_011530895.1:n.3075+7C>A | |
| XM_011532601.3:c.2310+7C>A | XP_011530903.1:n.2310+7C>A | |
| XM_011532602.2:c.2259+7C>A | XP_011530904.1:n.2259+7C>A | |
| XM_011532603.2:c.2259+7C>A | XP_011530905.1:n.2259+7C>A | |
| XM_011532609.2:c.1491+7C>A | XP_011530911.1:n.1491+7C>A | |
| XM_011532610.2:c.1491+7C>A | XP_011530912.1:n.1491+7C>A | |
| XM_017003432.2:c.3228+7C>A | XP_016858921.1:n.3228+7C>A | |
| XM_017003433.2:c.3195+7C>A | XP_016858922.1:n.3195+7C>A | |
| XM_017003434.1:c.3255+7C>A | XP_016858923.1:n.3255+7C>A | |
| XR_001738646.2:n.3557+7C>A | ||
| XR_001738647.2:n.3282+7C>A | ||
| XR_939663.3:n.3553+7C>A | ||
| NM_153021.5:c.3195+7C>A MANE Select | NP_694566.4:n.3195+7C>A | |
| NM_001170585.2:c.3162+7C>A | NP_001164056.1:n.3162+7C>A | |
| NR_138141.2:n.2101+7C>A |